CORDIS

Mouse disease models have proven to be a key resource for biomedical research to tackle the global health challenges. Europe has a leading position in developing concepts and interoperable standards for mouse disease model resources and data that have been adopted globally. INFRAFRONTIER is the pan-European research infrastructure for the systemic phenotyping, archiving and distribution of mammalian models, serving a global user community. The International Mouse Phenotyping Consortium (IMPC) is a global initiative to support biomedical research and provide the basis for the development of novel disease treatments by building a comprehensive functional catalogue of the mammalian genome by generating and systemically phenotyping knockout mouse strains for the approx. 20.000 protein-coding genes, and INFRAFRONTIER is a major contributor to this initiative.
The IPAD-MD project addresses global cooperation and coordination between the pan- European INFRAFRONTIER Research Infrastructure and complementary research infrastructures in America, Asia and Australia, contributing to the global effort of the IMPC, and with complementary research infrastructures and users in Africa.

The main activity of IPAD-MD is the organisation of international thematic workshops, bringing together key stakeholders from INFRAFRONTIER, the IMPC, the biomedical research community, industry, funders and policy and patient organisations to achieve three major objectives:
1. Strengthen the coordination between the global research infrastructures to facilitate global global interoperability of large-scale resources and services for mammalian disease models;
2. Engage key international stakeholders to ensure their input on the global large-scale resources for the use of mammalian models in biomedical research;
3. Develop a global approach to the innovation of these resources and services.

In the first reporting period, IPAD-MD WP2 has organised the Kick-Off Meeting in Munich in July 2015, the INFRAFRONTIER Industry and Innovation Workshop and five IPAD-MD expert group meetings. In the second reporting period, WP2 organised the second stakeholder meeting and one IPAD-MD expert group meeting, and also started the preparation of two IPAD-MD expert group meetings.

The IPAD-MD Kick-Off Meeting was attended by 52 participants from the IPAD-MD partners and the IMPC, and other European and international initiatives such as the International Human Epigenetics Consortium (IHEC), or the IMI NEWMEDS programme. The INFRAFRONTIER Industry & Innovation Workshop was attended by 88 participants, from Europe, North America, Asia and Australia, representing both academia and biopharma institutions. Key topics addressed were the need to tackle the reproducibility and robustness of research results; the role of repositories in the genome editing technologies era; the predictability and validity of mouse models and how to close the translation gap between pre-clinical and clinical research. The second stakeholder meeting focusing on the use of precision animal models in advancing personalised medicine was attended by 196 international participants from INFRAFRONTIER members and IMPC as well as from pioneering biomedical and pharmaceutical enterprises. The main goal of this meeting was to promote active discussions in the advancement of CRISPR/Cas9 technology and its implications on the services provided by INFRAFRONTIER and IMPC as well as its impact to the global user community, personalised medicine initiatives and rare disease consortia.

IPAD-MD WP6 implements the Standards and Technology (S&T) Expert Group. The first S&T Expert Group Meeting (focused on phenotyping) was organised in conjunction with the INFRAFRONTIER IMPC Korea Meeting which took place in Seoul in September 2015. At two IPAD-MD Workshops, the first on Metabolic Phenotyping and Metabolomics and the second on Behavioural Phenotyping, IPAD-MD S&T Expert Group members discussed how the state of the art phenotyping methodology in these areas can be implemented within INFRAFRONTIER and the IMPC. The second S&T Expert Group Meeting with focus on cryopreservation and distribution of mouse lines took place in Monterotondo, Italy, in November 2015. The experts discussed novel developments in oocyte and embryo vitrification, oocyte freezing, non-surgical embryo transfer and super ovulation. In April 2016 the next IPAD-MD S&T Expert Group Meeting was organised in conjunction with the IMPC-INFRAFRONTIER Strasbourg Meeting. WP6 organised two dedicated workshops, one on Genome Editing, the second on Phenotyping.

IPAD-MD WP7 implements the Data and Resources (D&R) Expert Group and organised three D&R Expert Group Meetings on 1) obtaining user feedback and expert input on the User Experience of the INFRAFRONTIER and IMPC web portal, 2) improving curation and annotation tooling for rare disease mouse models and 3) instructing the INFRAFRONTIER and IPAD-MD members about the latest CRISPR based features in iMits (International Micro-Injection Tracking System).

IPAD-MD WP3 carried out a survey of strategic research agendas at the European and global level. First, the current and emerging research priorities were queried from the INFRAFRONTIER and IMPC partners. The research priorities identified were then used for an analysis of the existent strategic research agendas of ERA-Nets, Joint-Programming Initiaties, Public-Private Partnerships such as the Innovative Medicines Initiative (IMI) and other research programmes involving ministries and funding agencies in their strategic planning. WP4 has carried out a survey of user requirements and application scenarios that involved the analysis of the INFRAFRONTIER database to characterise the academic and non-academic user community of INFRAFRONTIER, as well as the analysis of user feedback survey that was sent out to users of INFR

During its first two reporting periods the IPAD-MD project addressed the objectives described for the project: contributing to address societal challenges with a global dimension, developing cooperation with key international partners for research infrastructures, supporting progress towards the development of global research infrastructures, contributing to the development of a competitive high performance ERA in the global research environment and contributing to capacity building and research infrastructures human capital development in targeted/relevant regions (Africa).